UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43192335T>A | CA371119596 | HGSNAT | c.1282T>A (p.Phe428Ile) n.215T>A c.433T>A (p.Phe145Ile) c.386T>A c.1090T>A (p.Phe364Ile) c.418T>A (p.Phe140Ile) | gnomAD v4 |
| 8 | g.43192335T>C | CA371119597 | HGSNAT | c.1282T>C (p.Phe428Leu) n.215T>C c.433T>C (p.Phe145Leu) c.386T>C c.1090T>C (p.Phe364Leu) c.418T>C (p.Phe140Leu) | |
| 8 | g.43192335T>G | CA371119598 | HGSNAT | c.1282T>G (p.Phe428Val) n.215T>G c.433T>G (p.Phe145Val) c.386T>G c.1090T>G (p.Phe364Val) c.418T>G (p.Phe140Val) | |
| 8 | g.43192336T>A | CA371119600 | HGSNAT | c.1283T>A (p.Phe428Tyr) n.216T>A c.434T>A (p.Phe145Tyr) c.387T>A c.1091T>A (p.Phe364Tyr) c.419T>A (p.Phe140Tyr) | |
| 8 | g.43192336T>C | CA371119599 | HGSNAT | c.1283T>C (p.Phe428Ser) n.216T>C c.434T>C (p.Phe145Ser) c.387T>C c.1091T>C (p.Phe364Ser) c.419T>C (p.Phe140Ser) | |
| 8 | g.43192336T>G | CA4736835 | HGSNAT | c.1283T>G (p.Phe428Cys) n.216T>G c.434T>G (p.Phe145Cys) c.387T>G c.1091T>G (p.Phe364Cys) c.419T>G (p.Phe140Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43192336T= | CA1779759947 | HGSNAT | c.1283T= (p.Phe428=) n.216T= c.434T= (p.Phe145=) c.387T= c.1091T= (p.Phe364=) c.419T= (p.Phe140=) | |
| 8 | g.43192337T>A | CA371119601 | HGSNAT | c.1284T>A (p.Phe428Leu) n.217T>A c.435T>A (p.Phe145Leu) c.388T>A c.1092T>A (p.Phe364Leu) c.420T>A (p.Phe140Leu) | |
| 8 | g.43192337T>C | CA460578250 | HGSNAT | c.1284T>C (p.Phe428=) n.217T>C c.435T>C (p.Phe145=) c.388T>C c.1092T>C (p.Phe364=) c.420T>C (p.Phe140=) | |
| 8 | g.43192337T>G | CA371119602 | HGSNAT | c.1284T>G (p.Phe428Leu) n.217T>G c.435T>G (p.Phe145Leu) c.388T>G c.1092T>G (p.Phe364Leu) c.420T>G (p.Phe140Leu) | |
| 8 | g.43192338G>A | CA371119603 | HGSNAT | c.1285G>A (p.Gly429Ser) n.218G>A c.436G>A (p.Gly146Ser) c.389G>A c.1093G>A (p.Gly365Ser) c.421G>A (p.Gly141Ser) | |
| 8 | g.43192338G>C | CA371119604 | HGSNAT | c.1285G>C (p.Gly429Arg) n.218G>C c.436G>C (p.Gly146Arg) c.389G>C c.1093G>C (p.Gly365Arg) c.421G>C (p.Gly141Arg) | |
| 8 | g.43192338G>T | CA371119605 | HGSNAT | c.1285G>T (p.Gly429Cys) n.218G>T c.436G>T (p.Gly146Cys) c.389G>T c.1093G>T (p.Gly365Cys) c.421G>T (p.Gly141Cys) | gnomAD v4 |
| 8 | g.43192339G>A | CA371119606 | HGSNAT | c.1286G>A (p.Gly429Asp) n.219G>A c.437G>A (p.Gly146Asp) c.390G>A c.1094G>A (p.Gly365Asp) c.422G>A (p.Gly141Asp) | |
| 8 | g.43192339G>C | CA371119607 | HGSNAT | c.1286G>C (p.Gly429Ala) n.219G>C c.437G>C (p.Gly146Ala) c.390G>C c.1094G>C (p.Gly365Ala) c.422G>C (p.Gly141Ala) | |
| 8 | g.43192339G>T | CA371119608 | HGSNAT | c.1286G>T (p.Gly429Val) n.219G>T c.437G>T (p.Gly146Val) c.390G>T c.1094G>T (p.Gly365Val) c.422G>T (p.Gly141Val) | ClinVar |
| 8 | g.43192340C>A | CA460578260 | HGSNAT | c.1287C>A (p.Gly429=) n.220C>A c.438C>A (p.Gly146=) c.391C>A c.1095C>A (p.Gly365=) c.423C>A (p.Gly141=) | |
| 8 | g.43192340C>G | CA460578262 | HGSNAT | c.1287C>G (p.Gly429=) n.220C>G c.438C>G (p.Gly146=) c.391C>G c.1095C>G (p.Gly365=) c.423C>G (p.Gly141=) | |
| 8 | g.43192340C>T | CA460578264 | HGSNAT | c.1287C>T (p.Gly429=) n.220C>T c.438C>T (p.Gly146=) c.391C>T c.1095C>T (p.Gly365=) c.423C>T (p.Gly141=) | |
| 8 | g.43192341A= | CA1779759948 | HGSNAT | c.1288A= (p.Lys430=) n.221A= c.439A= (p.Lys147=) c.392A= c.1096A= (p.Lys366=) c.424A= (p.Lys142=) | |
| 8 | g.43192341A>C | CA371119609 | HGSNAT | c.1288A>C (p.Lys430Gln) n.221A>C c.439A>C (p.Lys147Gln) c.392A>C c.1096A>C (p.Lys366Gln) c.424A>C (p.Lys142Gln) | |
| 8 | g.43192341A>G | CA371119610 | HGSNAT | c.1288A>G (p.Lys430Glu) n.221A>G c.439A>G (p.Lys147Glu) c.392A>G c.1096A>G (p.Lys366Glu) c.424A>G (p.Lys142Glu) | dbSNP gnomAD v4 |
| 8 | g.43192341A>T | CA371119611 | HGSNAT | c.1288A>T (p.Lys430Ter) n.221A>T c.439A>T (p.Lys147Ter) c.392A>T c.1096A>T (p.Lys366Ter) c.424A>T (p.Lys142Ter) | |
| 8 | g.43192342A= | CA1779759949 | HGSNAT | c.1289A= (p.Lys430=) n.222A= c.440A= (p.Lys147=) c.393A= c.1097A= (p.Lys366=) c.425A= (p.Lys142=) | |
| 8 | g.43192342A>C | CA371119612 | HGSNAT | c.1289A>C (p.Lys430Thr) n.222A>C c.440A>C (p.Lys147Thr) c.393A>C c.1097A>C (p.Lys366Thr) c.425A>C (p.Lys142Thr) | |
| 8 | g.43192342A>G | CA371119613 | HGSNAT | c.1289A>G (p.Lys430Arg) n.222A>G c.440A>G (p.Lys147Arg) c.393A>G c.1097A>G (p.Lys366Arg) c.425A>G (p.Lys142Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43192342A>T | CA371119614 | HGSNAT | c.1289A>T (p.Lys430Met) n.222A>T c.440A>T (p.Lys147Met) c.393A>T c.1097A>T (p.Lys366Met) c.425A>T (p.Lys142Met) | |
| 8 | g.43192343G>A | CA4736836 | HGSNAT | c.1290G>A (p.Lys430=) n.223G>A c.441G>A (p.Lys147=) c.394G>A c.1098G>A (p.Lys366=) c.426G>A (p.Lys142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43192343G>C | CA371119616 | HGSNAT | c.1290G>C (p.Lys430Asn) n.223G>C c.441G>C (p.Lys147Asn) c.394G>C c.1098G>C (p.Lys366Asn) c.426G>C (p.Lys142Asn) | |
| 8 | g.43192343G= | CA1779759950 | HGSNAT | c.1290G= (p.Lys430=) n.223G= c.441G= (p.Lys147=) c.394G= c.1098G= (p.Lys366=) c.426G= (p.Lys142=) | |
| 8 | g.43192343G>T | CA371119615 | HGSNAT | c.1290G>T (p.Lys430Asn) n.223G>T c.441G>T (p.Lys147Asn) c.394G>T c.1098G>T (p.Lys366Asn) c.426G>T (p.Lys142Asn) | |
| 8 | g.43192344T>A | CA371119617 | HGSNAT | c.1291T>A (p.Tyr431Asn) n.224T>A c.442T>A (p.Tyr148Asn) c.395T>A c.1099T>A (p.Tyr367Asn) c.427T>A (p.Tyr143Asn) | |
| 8 | g.43192344T>C | CA371119618 | HGSNAT | c.1291T>C (p.Tyr431His) n.224T>C c.442T>C (p.Tyr148His) c.395T>C c.1099T>C (p.Tyr367His) c.427T>C (p.Tyr143His) | ClinVar |
| 8 | g.43192344T>G | CA371119619 | HGSNAT | c.1291T>G (p.Tyr431Asp) n.224T>G c.442T>G (p.Tyr148Asp) c.395T>G c.1099T>G (p.Tyr367Asp) c.427T>G (p.Tyr143Asp) | |
| 8 | g.43192345A>C | CA371119620 | HGSNAT | c.1292A>C (p.Tyr431Ser) n.225A>C c.443A>C (p.Tyr148Ser) c.396A>C c.1100A>C (p.Tyr367Ser) c.428A>C (p.Tyr143Ser) | |
| 8 | g.43192345A>G | CA371119621 | HGSNAT | c.1292A>G (p.Tyr431Cys) n.225A>G c.443A>G (p.Tyr148Cys) c.396A>G c.1100A>G (p.Tyr367Cys) c.428A>G (p.Tyr143Cys) | |
| 8 | g.43192345A>T | CA371119622 | HGSNAT | c.1292A>T (p.Tyr431Phe) n.225A>T c.443A>T (p.Tyr148Phe) c.396A>T c.1100A>T (p.Tyr367Phe) c.428A>T (p.Tyr143Phe) | |
| 8 | g.43192346T>A | CA371119624 | HGSNAT | c.1293T>A (p.Tyr431Ter) n.226T>A c.444T>A (p.Tyr148Ter) c.397T>A c.1101T>A (p.Tyr367Ter) c.429T>A (p.Tyr143Ter) | COSMIC COSMIC |
| 8 | g.43192346T>C | CA460578282 | HGSNAT | c.1293T>C (p.Tyr431=) n.226T>C c.444T>C (p.Tyr148=) c.397T>C c.1101T>C (p.Tyr367=) c.429T>C (p.Tyr143=) | dbSNP gnomAD v4 |
| 8 | g.43192346T>G | CA371119623 | HGSNAT | c.1293T>G (p.Tyr431Ter) n.226T>G c.444T>G (p.Tyr148Ter) c.397T>G c.1101T>G (p.Tyr367Ter) c.429T>G (p.Tyr143Ter) | |
| 8 | g.43192346T= | CA1779759951 | HGSNAT | c.1293T= (p.Tyr431=) n.226T= c.444T= (p.Tyr148=) c.397T= c.1101T= (p.Tyr367=) c.429T= (p.Tyr143=) | |
| 8 | g.43192347C>A | CA371119625 | HGSNAT | c.1294C>A (p.Pro432Thr) n.227C>A c.445C>A (p.Pro149Thr) c.398C>A c.1102C>A (p.Pro368Thr) c.430C>A (p.Pro144Thr) | dbSNP |
| 8 | g.43192347C= | CA1779759952 | HGSNAT | c.1294C= (p.Pro432=) n.227C= c.445C= (p.Pro149=) c.398C= c.1102C= (p.Pro368=) c.430C= (p.Pro144=) | |
| 8 | g.43192347C>G | CA371119626 | HGSNAT | c.1294C>G (p.Pro432Ala) n.227C>G c.445C>G (p.Pro149Ala) c.398C>G c.1102C>G (p.Pro368Ala) c.430C>G (p.Pro144Ala) | |
| 8 | g.43192347C>T | CA371119627 | HGSNAT | c.1294C>T (p.Pro432Ser) n.227C>T c.445C>T (p.Pro149Ser) c.398C>T c.1102C>T (p.Pro368Ser) c.430C>T (p.Pro144Ser) | |
| 8 | g.43192348C>A | CA371119628 | HGSNAT | c.1295C>A (p.Pro432Gln) n.228C>A c.446C>A (p.Pro149Gln) c.399C>A c.1103C>A (p.Pro368Gln) c.431C>A (p.Pro144Gln) | gnomAD v4 |
| 8 | g.43192348C>G | CA371119629 | HGSNAT | c.1295C>G (p.Pro432Arg) n.228C>G c.446C>G (p.Pro149Arg) c.399C>G c.1103C>G (p.Pro368Arg) c.431C>G (p.Pro144Arg) | |
| 8 | g.43192348C>T | CA371119630 | HGSNAT | c.1295C>T (p.Pro432Leu) n.228C>T c.446C>T (p.Pro149Leu) c.399C>T c.1103C>T (p.Pro368Leu) c.431C>T (p.Pro144Leu) | |
| 8 | g.43192349A= | CA1779759953 | HGSNAT | c.1296A= (p.Pro432=) n.229A= c.447A= (p.Pro149=) c.400A= c.1104A= (p.Pro368=) c.432A= (p.Pro144=) | |
| 8 | g.43192349A>C | CA460578288 | HGSNAT | c.1296A>C (p.Pro432=) n.229A>C c.447A>C (p.Pro149=) c.400A>C c.1104A>C (p.Pro368=) c.432A>C (p.Pro144=) |